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1دورية أكاديمية
المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
المصدر: Genes, Vol 12, Iss 5, p 738 (2021)
مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz
المصدر: Genes; Volume 14; Issue 3; Pages: 708
مصطلحات موضوعية: neurodevelopmental disorders, intellectual disability, autism, gene panel, next generation sequencing, re-analysis
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14030708Test
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3دورية أكاديمية
المؤلفون: Paloma Triana, Jesús Díez-Sebastián, Lara Rodriguez-Laguna, Victor Martinez-Glez, Juan Carlos Lopez-Gutierrez
المصدر: Journal of Vascular Anomalies, Vol 4, Iss 1, p e065 (2023)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
العلاقة: http://journals.lww.com/10.1097/JOVA.0000000000000065Test; https://doaj.org/toc/2690-2702Test; https://doaj.org/article/8888499c35804e3ca7d28fa8d90f8a7cTest
الإتاحة: https://doi.org/10.1097/JOVA.0000000000000065Test
https://doaj.org/article/8888499c35804e3ca7d28fa8d90f8a7cTest -
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المؤلفون: Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, moebius syndrome, genetic diagnosis, CHN1, novel variant, congenital dysinnervation syndromes
الإتاحة: https://doi.org/10.3389/fgene.2024.1291063.s002Test
https://figshare.com/articles/dataset/Table2_Case_report_Identification_of_a_novel_variant_p_Gly215Arg_in_the_CHN1_gene_causing_Moebius_syndrome_DOCX/25117715Test -
5دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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6دورية أكاديمية
المؤلفون: María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparrós‐Martín, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine R. Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero‐Beaumont, Javier Regadera, Concepción Hernández-Chico, Eduardo F. Tizzano, Víctor Martinez‐Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Mahmoud Y. Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Víctor L. Ruiz‐Pérez
مصطلحات موضوعية: Regulation of RNA Processing and Function, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Diagnosis and Management of Hypertrophic Cardiomyopathy, Cardiology and Cardiovascular Medicine, Medicine, Health Sciences, Structure and Function of the Nuclear Pore Complex, mRNA Decay, Exon, Gene isoform, Myopathy, Mutation, Biology, Gene, Skeletal muscle, Genetics, FOS Biological sciences, Molecular biology, Endocrinology
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7دورية أكاديمية
المؤلفون: Maria Cristina Estan, Elisa Fernandez-Nunez, Maha S Zaki, Maria Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, Jose A Caparros-Martin, Dimah Saade, Ying Hu, Veronique Bolduc, Katherine Ru-Yui Chao, Julian Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Ragavendra, Concepcion Hernandez-Chico, Eduardo F Tizzano, Victor Martinez-Glez, Jaime J Carvajal, Ruiting Zong, David L Nelson, Ghada A Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G Bonnemann, Pablo Lapunzina, Grace Yoon, Victor L Ruiz-Perez
مصطلحات موضوعية: Uncategorized, Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, MENTAL-RETARDATION PROTEIN, RNA-BINDING PROTEIN, MUSCULAR-DYSTROPHY, SKELETAL-MUSCLE, READ ALIGNMENT, EXPRESSION, FMR1, GENE, ASSOCIATION, DISCOVERY
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8دورية أكاديمية
المؤلفون: Luis Lassaletta, Miryam Calvino, Jose Manuel Morales-Puebla, Pablo Lapunzina, Lourdes Rodriguez-de la Rosa, Isabel Varela-Nieto, Victor Martinez-Glez
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: vestibular schwannoma, neurofibromatosis type 2, biomarkers, hearing loss, perilymph, chemokine, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00978/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/105db71cb8ea4a65afc7291a6f77ebdbTest
الإتاحة: https://doi.org/10.3389/fneur.2019.00978Test
https://doaj.org/article/105db71cb8ea4a65afc7291a6f77ebdbTest -
9دورية أكاديمية
المؤلفون: José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Maria València, Julián Nevado, Elena Vallespín, Ángela del Pozo, Carmen Prior de Castro, Lucia Calatrava‐Ferreras, Pilar Gutiérrez, Ana M. Bueno, Belén Sagastizábal, Encarna Guillén‐Navarro, María Juliana Ballesta-Martinez, Vanesa López González, S. Başaran, Rüksan Büyükoğlan, Bilge Sarıkepe, Cecilia Espinoza‐Valdez, Francisco Cammarata‐Scalisi, Victor Martínez‐Glez, Karen E. Heath, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
مصطلحات موضوعية: Genetic and Molecular Studies of Connective Tissue Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Role of Osteopontin in Biomineralization and Inflammation, Rheumatology, Medicine, Health Sciences, Role of Vitamin K in Health, Nutrition and Dietetics, FOS Health sciences, Nursing, Osteogenesis Imperfecta, Osteoporosis, Dentinogenesis Imperfecta, Exome sequencing, Osteogenesis imperfecta, Compound heterozygosity, Consanguinity, Proband, Offspring, Biology, Heterozygote advantage, Mutation, Gene, Sanger sequencing, Haploinsufficiency, Disease gene identification, Genetic counseling
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10دورية أكاديمية
المؤلفون: Leila Cabral de Almeida Cardoso, Lara Rodriguez-Laguna, María Del Carmen Crespo, Elena Vallespín, María Palomares-Bralo, Rubén Martin-Arenas, Inmaculada Rueda-Arenas, Paulo Antonio Silvestre de Faria, GT-CSGP Working Group, Purificación García-Miguel, Pablo Lapunzina, Fernando Regla Vargas, Hector N Seuanez, Víctor Martínez-Glez
المصدر: PLoS ONE, Vol 10, Iss 8, p e0136812 (2015)
العلاقة: http://europepmc.org/articles/PMC4552764?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/d5f78e64bad84958bd1dde6c74ae53c5Test
الإتاحة: https://doi.org/10.1371/journal.pone.0136812Test
https://doaj.org/article/d5f78e64bad84958bd1dde6c74ae53c5Test